Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs28938473
rs28938473
4 0.882 0.040 1 94007731 missense variant G/A snv 3.0E-03 3.6E-03 0.700 1.000 1 2019 2019
dbSNP: rs61750641
rs61750641
7 0.790 0.080 1 94005499 missense variant C/T snv 3.5E-04 4.7E-04 0.700 1.000 1 2019 2019
dbSNP: rs1554403767
rs1554403767
1 1.000 7 120840076 frameshift variant A/- delins 0.700 0
dbSNP: rs1565083843
rs1565083843
1 1.000 11 68406812 missense variant A/G snv 0.700 0
dbSNP: rs369867819
rs369867819
5 0.851 0.320 11 76659963 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs121918542
rs121918542
3 0.882 0.040 2 232768790 missense variant G/A snv 4.0E-06 0.020 1.000 2 2008 2013